rs121918355, LTBP2

N. diseases: 7
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Glaucoma 3, Primary Congenital, D
CUI: C2751316
Disease: Glaucoma 3, Primary Congenital, D
6 0.807 0.280 14 74555629 stop gained G/A;T snv 2.1E-05; 4.2E-06 0.700 0
MICROSPHEROPHAKIA AND/OR MEGALOCORNEA, WITH ECTOPIA LENTIS AND WITH OR WITHOUT SECONDARY GLAUCOMA
CUI: C3538951
Disease: MICROSPHEROPHAKIA AND/OR MEGALOCORNEA, WITH ECTOPIA LENTIS AND WITH OR WITHOUT SECONDARY GLAUCOMA
6 0.807 0.280 14 74555629 stop gained G/A;T snv 2.1E-05; 4.2E-06 0.700 0
Congenital Abnormality
CUI: C0000768
Disease: Congenital Abnormality
73 0.807 0.280 14 74555629 stop gained G/A;T snv 2.1E-05; 4.2E-06 0.010 1.000 1 2011 2011
Ectopia Lentis
CUI: C0013581
Disease: Ectopia Lentis
17 0.807 0.280 14 74555629 stop gained G/A;T snv 2.1E-05; 4.2E-06 0.010 1.000 1 2011 2011
Marfan Syndrome
CUI: C0024796
Disease: Marfan Syndrome
1012 0.807 0.280 14 74555629 stop gained G/A;T snv 2.1E-05; 4.2E-06 0.010 1.000 1 2011 2011
Primary congenital glaucoma
CUI: C1533041
Disease: Primary congenital glaucoma
25 0.807 0.280 14 74555629 stop gained G/A;T snv 2.1E-05; 4.2E-06 0.010 1.000 1 2011 2011
Secondary glaucoma
CUI: C0149893
Disease: Secondary glaucoma
2 0.807 0.280 14 74555629 stop gained G/A;T snv 2.1E-05; 4.2E-06 0.010 1.000 1 2011 2011